Varaico: Literature-Extracted Genetic Variants

Gene:EOMES
Variant:p.Y231C

EOMES

149 papers

RefSeq Summary

This gene belongs to the TBR1 (T-box brain protein 1) sub-family of T-box genes that share the common DNA-binding T-box domain. The encoded protein is a transcription factor which is crucial for embry...

Pfam Domains

T-boxaa 269–456UCSCT-box
T-box_assocaa 463–684UCSCT-box transcription factor-associated

Gene Aliases

HGNC Name

eomesodermin

HGNC Alias Symbol

TBR2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001278182.2
p.Y231C
c.692A>G
Surrounding Variants
1 paper
NM_001278182.2
p.G229delFs
c.686delC
1 paper
NM_001278182.2
p.G225_G227del0
c.673_681del9
1 paper
NM_001278182.2
p.A247_A248delFs
c.739_743del5
1 paper
NM_001278182.2
p.G250E
c.749G>A
1 paper
NM_001278182.2
p.C252Y
c.755G>A
1 paper
NM_001278182.2
p.G257insFs
c.770dupG
1 paper
NM_001278182.2
p.P197_G204delFs
c.590_612del23
1 paper
NM_001278182.2
p.L258fs
c.772_773fs
2 papers
NM_001278182.2
p.G204R
c.610G>C
1 paper
NM_001278182.2
p.G204R
c.610G>A
1 paper
NM_001278182.2
p.G259R
c.775G>C
1 paper
NM_001278182.2
p.G259R
c.775G>A
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